Progressive duodenal adenomatosis in a familial adenomatous polyposis pedigree with APC mutation at codon 1556

Diseases of the Colon and Rectum

Volumn 45, Issue 2, 2002, Pages 229-233

  Matsumoto, Takayuki ^a,c   Iida, Mitsuo ^b   Kobori, Yoichiro ^b   Mizuno, Mitsuru ^b   Nakamura, Shotaro ^c   Hizawa, Kazuoki ^c  

^a KYUSHU UNIVERSITY HOSPITAL   (Japan)

^b KAWASAKI MEDICAL SCHOOL   (Japan)

^c KYUSHU UNIVERSITY   (Japan)

Author keywords

Adenomatous polyposis coli gene; Duodenum; Familial adenomatous polyposis; Surveillance

Indexed keywords

APC PROTEIN;

ADENOMATOSIS; ADENOMATOUS POLYP; ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; CORRELATION ANALYSIS; DESMOID TUMOR; DUODENUM ADENOMATOSIS; FRAMESHIFT MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MUTATION; OSTEOMA; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; POLYPOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADENOMATOUS POLYPOSIS COLI; ADULT; DUODENAL NEOPLASMS; FEMALE; FRAMESHIFT MUTATION; GENES, APC; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0036167458     PISSN: 00123706     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10350-004-6153-9     Document Type: Article

References (30)

1. APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis
2. Molecular analysis of the APC gene in 205 families: Extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
3. Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis
4. The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis
5. Familial adenomatous polyposis: Desmoid tumors and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444
6. Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients
7. APC genotype, polyp number, and surgical options in familial adenomatous polyposis
8. APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis
9. Familial adenomatous polyposis: Mutation at codon 1309 and early onset of colon cancer
10. Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene
11. Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520
12. Colonic late-onset familial adenomatous polyposis combined with severe duodenal polyposis and familial endometrial cancer
13. Upper gastrointestinal cancer in patients with familial adenomatous polyposis
14. Identification and characterization of the familial adenomatous polyposis coli gene
15. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients
16. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene
17. Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene
18. A germline mutation at the extreme 3′ end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor
19. The clinical correlates of a 3′ truncating mutation (codons 1982-1983) in the adenomatous polyposis coli gene
20. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene
21. Genotype-phenotype correlations in attenuated adenomatous polyposis coli
22. Phenotypic expression of disease in families that have mutations in the 5′ region of the adenomatous polyposis coli gene
23. Attenuated adenomatous polyposis coli: The role of ascertainment bias through failure to dye-spray at colonoscopy
24. Natural history of duodenal lesions in Japanese patients with familial adenomatous polyposis (Gardner's syndrome)
25. Natural history of ampullary adenoma in familial adenomatous polyposis: Reconfirmation of benign nature during extended surveillance
26. Familial adenomatous polyposis: Should patients undergo surveillance of the upper gastrointestinal tract?
27. The natural history of untreated duodenal and ampullary adenomas in patients with familial adenomatous polyposis followed in an endoscopic surveillance program
28. Natural history of fundic gland polyposis in patients with familial adenomatous polyposis/Gardner's syndrome
29. Familial segregation in the occurrence and severity of periampullary neoplasms in familial adenomatous polyposis
30. A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36